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Persistence of Intracellular and Extracellular Changes after Incompletely Suppressing Expression of the R789C (p.R989C) and R992C (p.R1192C) Collagen II Mutants

Mutations in COL2A1 produce a spectrum of disorders whose hallmark feature is alterations in skeletal development. Attempts to counteract the effects of collagen mutations at the molecular level have been relatively ineffective due to the inability to selectively suppress a mutant allele, and failur...

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Bibliographic Details
Published in:Hum Mutat
Main Authors: Jensen, Deborah A., Steplewski, Andrzej, Gawron, Katarzyna, Fertala, Andrzej
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4246508/
https://ncbi.nlm.nih.gov/pubmed/21472893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21506
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